Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

Mutations in the serine palmitoyltransferase subunit 1 (SPTLC1) gene are the most common cause of hereditary sensory neuropathy type 1 (HSN1). Here we report the clinical and molecular consequences of a particular mutation (p.S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting a...

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保存先:
書誌詳細
主要な著者: Auer-Grumbach, Michaela, Bode, Heiko, Pieber, Thomas R., Schabhüttl, Maria, Fischer, Dirk, Seidl, Rainer, Graf, Elisabeth, Wieland, Thomas, Schuh, Reinhard, Vacariu, Gerda, Grill, Franz, Timmerman, Vincent, Strom, Tim M., Hornemann, Thorsten
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2013
主題:
Short Clinical Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3682180/
https://ncbi.nlm.nih.gov/pubmed/23454272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2013.02.002
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